Genotype Imputation in Genome-Wide Association Studies.

This article reviews the general concepts behind imputation, describes imputation approaches and methods for various types of genotype data, including family-based data, and identifies web-based resources that can be used in different steps of the imputation process. For practical application, it provides a step-by-step guide to implementation of a two-step imputation process consisting of phasing of the study genotypes and the imputation of reference panel genotypes into the study haplotypes. In addition, this review describes recently developed haplotype reference panel resources and online imputation servers that are capable of remotely and securely implementing an imputation workflow on uploaded genotype array data. © 2019 by John Wiley & Sons, Inc.
PMID: 31216114 [PubMed - in process]

Source: Current Protocols in Human Genetics - June 21, 2019 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research